A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987252



Internal ID19210509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47837543..47839143hg38UCSC Ensembl
Outerchr19:48340800..48342400hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132476
Supporting Variants
SamplesKWS1
Known GenesCRX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987252
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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